Table 3.
Number of family-specific mutations and mutation frequencies per gene and base pair (bp) in four HPE genes by the respective research group.
| Gene | NIH (n=189) | French (n=200) | Dutch (n=86) | Aggregate (n=475) |
|---|---|---|---|---|
| Mutations detected | ||||
| SHH | 10 | 15 | 3 | 28 |
| ZIC2 | 8 | 7 | 8 | 23 |
| SIX3 | 9 | 8 | 8 | 25 |
| TGIF | 1 | 2 | 0 | 3 |
| Mutation frequency per gene | ||||
| SHH | 5.29% | 7.50% | 3.49% | 5.89% |
| ZIC2 | 4.23% | 3.50% | 9.30% | 4.84% |
| SIX3 | 4.76% | 4.00% | 9.30% | 5.26% |
| TGIF | 0.53% | 1.00% | 0.00% | 0.63% |
| Mutation frequency per bpa | ||||
| SHH | 3.81×10−5 | 5.40×10−5 | 2.51×10−5 | 4.24×10−5 |
| ZIC2 | 1.58×10−5 | 1.30×10−5 | 3.47×10−5 | 1.81×10−5 |
| SIX3 | 4.77×10−5 | 4.00×10−5 | 9.31×10−5 | 5.27×10−5 |
| TGIF | 6.48×10−6 | 1.23×10−5 | 0 | 1.95×10−5 |
a
SHH, ZIC2, SIX3 and TGIF have, respectively, 1389 bp, 2682 bp, 999 bp and 816 bp in length.